Variant report

Variant	esv3368076
Chromosome Location	chr3:101215317-101215689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542241216	chr3:101215331-101215332	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10936664	chr3:101215356-101215357	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs559994435	chr3:101215389-101215390	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58837966	chr3:101215408-101215409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368850019	chr3:101215422-101215423	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191858860	chr3:101215499-101215500	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182126979	chr3:101215504-101215505	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140139922	chr3:101215509-101215510	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532069487	chr3:101215515-101215516	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571751718	chr3:101215524-101215525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375416963	chr3:101215545-101215546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11712358	chr3:101215585-101215586	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550181470	chr3:101215587-101215588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372154015	chr3:101215604-101215605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186773691	chr3:101215611-101215612	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101171200-101230400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:101186400-101223600	Weak transcription	Gastric	stomach
3	chr3:101193200-101230400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:101198400-101220600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:101198600-101231000	Weak transcription	GM12878-XiMat	blood
6	chr3:101200400-101216200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:101201800-101220000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:101202200-101230800	Weak transcription	Psoas Muscle	Psoas
9	chr3:101204000-101231200	Weak transcription	Esophagus	oesophagus
10	chr3:101204200-101223800	Weak transcription	NH-A	brain
11	chr3:101204200-101227600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:101204200-101228400	Weak transcription	NHDF-Ad	bronchial
13	chr3:101204400-101225600	Weak transcription	K562	blood
14	chr3:101204400-101230800	Weak transcription	Right Ventricle	heart
15	chr3:101204600-101217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:101204600-101219200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:101204600-101230800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:101205600-101220600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:101206600-101219600	Weak transcription	NHLF	lung
20	chr3:101206800-101224800	Weak transcription	Fetal Heart	heart
21	chr3:101207000-101220400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:101207200-101221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:101207800-101231000	Weak transcription	Aorta	Aorta
24	chr3:101209600-101227800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:101209800-101220600	Weak transcription	HSMMtube	muscle
26	chr3:101210000-101231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:101211200-101231000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:101211600-101216800	Weak transcription	Fetal Lung	lung
29	chr3:101211600-101230400	Weak transcription	Placenta	Placenta
30	chr3:101211800-101218800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:101211800-101219200	Weak transcription	Pancreas	Pancrea
32	chr3:101211800-101220400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:101211800-101221800	Weak transcription	HepG2	liver
34	chr3:101211800-101223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:101211800-101227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:101211800-101228200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:101211800-101229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:101211800-101230400	Weak transcription	Liver	Liver
39	chr3:101211800-101230800	Weak transcription	Lung	lung
40	chr3:101211800-101231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:101212000-101217200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:101212000-101219200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:101212000-101221000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:101212000-101229400	Weak transcription	Fetal Brain Male	brain
45	chr3:101212000-101230000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:101212000-101230200	Weak transcription	Adipose Nuclei	Adipose
47	chr3:101212200-101215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:101212200-101215600	Weak transcription	Dnd41	blood
49	chr3:101212200-101216200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:101212200-101216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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